K5Q (p.Lys5Gln) variant of MSH3 (DNA mismatch repair protein Msh3)
K5Q (p.Lys5Gln) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
K5Q (p.Lys5Gln) variant details
- p.Lys5Gln
- rs2546709757
- ClinGen CA360264768
- ClinVar RCV004513650
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)